{"id":"W2084803199","doi":"10.1002/humu.20586","title":"Sequence variation database for the Wilson disease copper transporter,ATP7B","year":2007,"lang":"en","type":"article","venue":"Human Mutation","topic":"Trace Elements in Health","field":"Nursing","cited_by":115,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"University of Alberta","keywords":"Biology; Disease; Database; ATP7A; Gene; Population; Genetics; Mutation; Transporter; Pathology; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007636186,0.0009519124,0.00116536,0.005951275,0.0005456681,0.001213621,0.00144156,0.001051111,0.05314972],"category_scores_gemma":[0.004633867,0.0003789183,0.0003893405,0.007966829,0.0001696437,0.0009602234,0.0007087688,0.0008353409,0.02573869],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004200153,"about_ca_system_score_gemma":0.001670348,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005686497,"about_ca_topic_score_gemma":0.01023621,"domain_scores_codex":[0.9995934,0.00006939488,0.0001394479,0.0000742785,0.0000959701,0.00002757765],"domain_scores_gemma":[0.9978489,0.0008257815,0.0003822712,0.0001794937,0.0004634233,0.000300118],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001278286,0.0001977317,0.01184935,0.005856505,0.0002506502,0.001324306,0.0003770421,0.001246128,0.01167295,0.004394029,0.8370932,0.1244599],"study_design_scores_gemma":[0.0003429914,0.0001297206,0.02716349,0.0006251523,0.0002007,0.001994252,0.0001337951,0.001434036,0.002160905,0.00365035,0.9620824,0.00008221516],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.004720973,0.001967887,0.003853021,0.0002775679,0.0001147705,0.0001518896,0.978334,0.002548213,0.008031756],"genre_scores_gemma":[0.005417917,0.001225733,0.008253604,0.0001648339,0.00004213565,0.0001744641,0.9822973,0.0003654343,0.002058536],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.05314972,"threshold_uncertainty_score":0.1778035,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0744124996091498,"score_gpt":0.3891339096888264,"score_spread":0.3147214100796766,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}